loading...| Preferred Name |
Peutz-Jeghers syndrome |
| Synonyms |
Peutz-Jeghers small bowel hamartoma Peutz's syndrome polyps-and-Spots syndrome Polyps and spots syndrome Peutz-Jeghers syndrome periorificial lentiginosis syndrome Jeghers-Peutz syndrome polyposis, hamartomatous intestinal colonic hamartomatous polyp PJS gastric Peutz-Jeghers polyp Peutz Jeghers polyposis Hamartomatous intestinal polyposis polyps and spots syndrome Peutz-Jeghers polyp of small intestine hamartomatous intestinal polyposis Peutz-Jeghers syndrome; PJS lentiginosis, perioral Peutz Jeghers colon polyp Peutz Jeghers polyp |
| Definitions |
Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies. |
| ID |
http://www.orpha.net/ORDO/Orphanet_2869 |
| closeMatch |
http://linkedlifedata.com/resource/umls/id/C0456487 http://identifiers.org/snomedct/277161008 http://purl.obolibrary.org/obo/NCIT_C7755 http://identifiers.org/snomedct/157029009 |
| database_cross_reference |
SCTID:54411001 ICD9:759.6 MSH:D010580 OMIM:175200 UMLS:C1333088 DOID:3852 UMLS:C0031269 MESH:D010580 GARD:0007378 MONDO:0008280 NCIT:C3324 ICD10:Q85.8 MedDRA:10034764 |
| definition |
Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies. |
| definition_citation |
orphanet |
| disease has feature |
http://www.orpha.net/ORDO/Orphanet_98615 http://www.orpha.net/ORDO/Orphanet_183466 |
| exactMatch |
http://purl.obolibrary.org/obo/DOID_3852 http://identifiers.org/omim/175200 http://identifiers.org/mesh/D010580 http://identifiers.org/meddra/10034764 http://purl.obolibrary.org/obo/NCIT_C3324 http://identifiers.org/snomedct/54411001 http://linkedlifedata.com/resource/umls/id/C1333088 |
| has_exact_synonym |
Peutz-Jeghers small bowel hamartoma Peutz's syndrome Polyps and spots syndrome Peutz-Jeghers syndrome Jeghers-Peutz syndrome colonic hamartomatous polyp PJS gastric Peutz-Jeghers polyp Hamartomatous intestinal polyposis polyps and spots syndrome Peutz-Jeghers polyp of small intestine hamartomatous intestinal polyposis Peutz Jeghers colon polyp Peutz Jeghers polyp |
| has_related_synonym |
polyps-and-Spots syndrome periorificial lentiginosis syndrome polyposis, hamartomatous intestinal Peutz Jeghers polyposis Peutz-Jeghers syndrome; PJS lentiginosis, perioral |
| id |
Orphanet:2869 |
| in_subset |
http://purl.obolibrary.org/obo/mondo#ordo_disease |
| label |
Peutz-Jeghers syndrome |
| notation |
Orphanet:2869 |
| prefLabel |
Peutz-Jeghers syndrome |
| see also |
https://rarediseases.info.nih.gov/diseases/7378/peutz-jeghers-syndrome |
| subClassOf |
http://www.orpha.net/ORDO/Orphanet_98615 http://www.orpha.net/ORDO/Orphanet_183466 http://www.orpha.net/ORDO/Orphanet_98196 http://www.orpha.net/ORDO/Orphanet_363314 http://www.orpha.net/ORDO/Orphanet_183422 |